Associated Papers
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5.
Fisher Y et al.
American Journal of Medical Genetics. Part A, 2025
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS24_het
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